Canonical Allele Identifier: CA248182176

Gene: SPART

Linked Data

• ClinVar Variation Id: 512580
• ClinVar RCV Id: RCV000605565 ; RCV001109320
• dbSNP Id: rs567106287
• gnomAD v2: 13-36920367-C-T
• gnomAD v3: 13-36346230-C-T
• gnomAD v4: 13-36346230-C-T
• MyVariant Identifiers: chr13:g.36920367C>T (hg19) ; chr13:g.36346230C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.36346230C>T , CM000675.2:g.36346230C>T	GRCh38
NC_000013.10:g.36920367C>T , CM000675.1:g.36920367C>T	GRCh37
NC_000013.9:g.35818367C>T	NCBI36
NG_011559.1:g.28951G>A
NG_011559.2:g.28951G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438666.7:c.-8G>A MANE Select	ENSP00000406061.2:n.-8G>A
ENST00000650221.1:c.-2-10398G>A	ENSP00000497209.1:n.-2-10398G>A
ENST00000355182.8:c.-2-10398G>A	ENSP00000347314.4:n.-2-10398G>A
ENST00000438666.6:c.-8G>A	ENSP00000406061.2:n.-8G>A
ENST00000451493.5:c.-3+352G>A	ENSP00000414147.1:n.-3+352G>A
ENST00000494062.2:c.-75+84G>A	ENSP00000473599.1:n.-75+84G>A
ENST00000494703.1:n.196+352G>A
ENST00000495510.1:n.54G>A
NM_001142294.1:c.-2-10398G>A	NP_001135766.1:n.-2-10398G>A
NM_001142295.1:c.-3+352G>A	NP_001135767.1:n.-3+352G>A
NM_001142296.1:c.-75+84G>A	NP_001135768.1:n.-75+84G>A
NM_015087.4:c.-8G>A	NP_055902.1:n.-8G>A
XM_005266313.3:c.-3+10G>A	XP_005266370.1:n.-3+10G>A
XM_005266314.2:c.-75+352G>A	XP_005266371.1:n.-75+352G>A
XM_005266316.2:c.-74-9872G>A	XP_005266373.1:n.-74-9872G>A
XM_011535012.1:c.-3+84G>A	XP_011533314.1:n.-3+84G>A
XR_941540.1:n.255G>A
XM_005266313.5:c.-3+10G>A	XP_005266370.1:n.-3+10G>A
XM_005266314.3:c.-75+352G>A	XP_005266371.1:n.-75+352G>A
XM_011535012.2:c.-3+84G>A	XP_011533314.1:n.-3+84G>A
XM_024449334.1:c.-80G>A	XP_024305102.1:n.-80G>A
XR_001749523.2:n.221G>A
NM_015087.5:c.-8G>A MANE Select	NP_055902.1:n.-8G>A
NM_001142296.2:c.-75+84G>A	NP_001135768.1:n.-75+84G>A
NM_001142294.2:c.-2-10398G>A	NP_001135766.1:n.-2-10398G>A
NM_001142295.2:c.-3+352G>A	NP_001135767.1:n.-3+352G>A